NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) AND Developmental and epileptic encephalopathy, 25
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001341355.4
Allele description
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 25 (DEE25)
- Synonyms:
- Epileptic encephalopathy, early infantile, 25; Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
- Identifiers:
- MONDO: MONDO:0014392; MedGen: C4014621; Orphanet: 442835; OMIM: 615905
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RLIM ring finger protein, LIM domain interacting [Homo sapiens]
RLIM ring finger protein, LIM domain interacting [Homo sapiens]Gene ID:51132Gene
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Gene Links for GEO Profiles (Select 67618832) (1)
Gene
-
GGT7 gamma-glutamyltransferase 7 [Homo sapiens]
GGT7 gamma-glutamyltransferase 7 [Homo sapiens]Gene ID:2686Gene
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Gene Links for GEO Profiles (Select 67620826) (1)
Gene
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Homo sapiens gamma-glutamyltransferase 7, mRNA (cDNA clone IMAGE:5193787), parti...
Homo sapiens gamma-glutamyltransferase 7, mRNA (cDNA clone IMAGE:5193787), partial cdsgi|21707297|gb|BC033745.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023